Activity
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6 actions
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| DDG2P v6.330 | SC5D | Achchuthan Shanmugasundram Mode of pathogenicity for gene: SC5D was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | SC5D | Achchuthan Shanmugasundram edited their review of gene: SC5D: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SC5D-related lathosterolosis are definitive, biallelic_autosomal and undetermined (PMIDs: 12189593, 12812989). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00878.; Changed phenotypes to: MONDO:0011816, SC5D-related lathosterolosis, LATHOSTEROLOSIS, OMIM:607330, OMIM:607330.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SC5D | Achchuthan Shanmugasundram reviewed gene: SC5D: Rating: GREEN; Mode of pathogenicity: Other; Publications: 12189593, 12812989; Phenotypes: LATHOSTEROLOSIS, OMIM:607330; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SC5D |
Achchuthan Shanmugasundram Mode of pathogenicity for gene SC5D was changed from Other - please provide details in the comments to Other Publications for gene: SC5D were updated from to 12189593; 12812989 |
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| DDG2P v0.2 | SC5D | Rebecca Foulger reviewed gene: SC5D: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | SC5D |
Rebecca Foulger gene: SC5D was added gene: SC5D was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SC5D was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SC5D were set to LATHOSTEROLOSIS 607330 Mode of pathogenicity for gene: SC5D was set to Other - please provide details in the comments |
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